Canonical Allele Identifier: CA2580067045

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1999169
• ClinVar RCV Id: RCV002815211 ; RCV003455583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475171_47475278del , CM000664.2:g.47475171_47475278del	GRCh38
NC_000002.11:g.47702310_47702417del , CM000664.1:g.47702310_47702417del	GRCh37
NC_000002.10:g.47555814_47555921del	NCBI36
NG_007110.2:g.77048_77155del , LRG_218:g.77048_77155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1906_2005+8del
ENST00000233146.7:c.1906_2005+8del
ENST00000543555.6:c.1708_1807+8del
ENST00000644092.1:c.*206_*305+8del
ENST00000645339.1:c.1906_2005+8del
ENST00000645506.1:c.1906_2005+8del
ENST00000646415.1:c.1906_2005+8del
ENST00000233146.6:c.1906_2005+8del
ENST00000406134.5:c.1906_2005+8del
ENST00000543555.5:c.1708_1807+8del
ENST00000610696.4:c.*302_*401+8del
ENST00000613514.4:c.*446_*545+8del
ENST00000617333.3:c.*672_*771+8del
ENST00000617938.4:c.*878_*977+8del
ENST00000621359.2:c.1906_2005+8del
NM_000251.2:c.1906_2005+8del , LRG_218t1:c.1906_2005+8del
NM_001258281.1:c.1708_1807+8del
XM_005264332.2:c.1906_2005+8del
XM_011532867.1:c.1906_2005+8del
XR_939685.1:n.1978_2077+8del
XM_005264332.4:c.1906_2005+8del
XM_011532867.2:c.1906_2005+8del
XR_001738747.2:n.1968_2067+8del
XR_939685.2:n.1968_2067+8del
NM_000251.3:c.1906_2005+8del